Sarah and Hayden Noble

Our Journey with Mucolipidosis type 3

Jenny Noble, from Nelson New Zealand recounts their family’s experience with Mucolipidosis Type 3, and details the dramatic improvements to Hayden and Sarah’s health and quality of life, following a trial of Pamidronate to treat the secondary bone disease that became such a significant problem in their teenage years.

Our story begins with Hayden, being born on 5th November 1981, David born 26th Oct 1983, and finally with Sarah born 17th Jan 1986. Sarah was born at 33 weeks and suffered quite a few problems as a prem. baby, but we made it through and life was great. We had three normal healthy children, or so we thought.

Our nightmare began 1986 when it was pointed out to us that Hayden was not keeping up with his peers in growth and learning ability and it was suggested that he would not be able to deal with life at school. It was brought to our attention that he really needed a physiological assessment to determine at what level he was functioning. This was done and we discovered that he was 2 years behind a normal 5-year-old.

Hayden spent the next 6 months in a Special Education Kindergarten unit where he had one on one help to bring his learning level up to a 5-year-olds. We achieved this in 6 months and Hayden went off to school with one to one help.

After being at school for several months we were contacted by the school who advised us that once again Hayden was slipping behind, and that in the playground he was not able to climb and run as well as other children.

By this time we were getting desperate to put a name to the problems our son seemed to be having, so off to our family doctor we went and described all the problems Hayden was having. It didn’t take long to find ourselves sitting in a Pediatric Clinic waiting to see a specialist.

Finally on 6th November 1987 we were given a diagnosis of Mucolipidosis Type 3 a rare genetic disorder we were told. Finally we had a name, but what really did that mean for Hayden, and for that matter what about David and Sarah?

Both David and Sarah went through the testing process of blood and urine samples being sent to Australia where Hayden’s diagnosis was done. David’s tests came back negative and Sarah’s inconclusive. A Skin Biopsy was needed, so our beautiful little girl went through the process of having a biopsy done and sent away. By this time I was very certain that Sarah’s tests would come back positive.

In January 1988 we were called into the Drs. office to be told that our daughter also had ML3. For us this was a time to total shock. How could this have happened to two of our children and why us.

We were given a two-line explanation of what ML3 was and told to go home and get on with our lives. We were told that as parents we would suffer more than our children would, as they would not know what a normal life would be like.

We were desperate to find someone else who had children like ours. We wanted to know what life had in store for us, but to our disappointment there were no other families in New Zealand who had children with ML3. We finally made contact with the MPS Society in Australia, which in fact was our lifesaver.

Information began to pour in on our children’s condition, and we found ourselves starting to make decisions on the care that Hayden and Sarah would need as time went on.

Over the years the children have had to have many surgical procedures to lessen the degree of deformity. We have found that we have to actively manage the care of the children to ensure that the treatment is appropriate to ML3, not just a health professionals interpretation of what ML3 is similar to, and therefore what treatment is needed in their eyes.

Hayden’s operations

Tonsils, Adenoids, Grommets

As a small child he use to get quite a few ear nose and throat infections and consequently ended up having his tonsils and adenoids out and grommets inserted in his ears to prevent glue ear. We did not put these problems down to ML3 as we were told at the time that young children all seem to have these problems. About two years later he had his second set of grommets and to this day still suffers with glue ear.

Travel

By the time Hayden was 8 years old we were facing major spinal surgery to stabilise Kyphosis/Scoliosis between L1 and T11. Because all this was very new to us, we took the opportunity to travel to America to see Dr. Steven Kopits and then onto England to attend our very first International MPS conference in the hope that we could try and understand a little more about this genetic condition.

Our first stop was to America where Hayden and Sarah were seen by Dr Kopits. It was at this meeting that Carpal Tunnel Syndrome was discovered in both children. We were also given advice on the kind of spinal surgery that Hayden should have.

We then travelled onto England to attend our first International Conference where we met other families who had ML3 children. We were also able to speak to several Drs. about the health issues we were now facing. To be able to discuss these problems with other families and Drs. from around the world was just wonderful as it meant that Hayden and Sarah would have the best medical care possible.

On arriving back in New Zealand we set about having both children tested for Carpal Tunnel Syndrome. The Drs. doing the tests were not at all convinced that such young children could have this problem. So on completing the tests the Drs. were astounded at the severity of the condition and operations were immediately organised. This was our first experience of health professional not understanding the condition.

Carpel Tunnel Surgery

Hayden’s first Carpal Tunnel operation was performed in November 1990 from which he seemed to have good results, but in March 1993 he was to be seen back in the operating theatre for his second operation. At this time he also had a Bilateral Metacarpal Release as he was starting to have clawing of the hands and they were becoming useless.

Once again he showed good improvement but by 1995 he was back again for yet another operation. This time though, it was to be a little different, as it was thought that these children could have a compression either above or below the Carpal Tunnel. It was suggested that the operation be carried out further into the hand to look for compression. It took a lot of talking on our part to convince the Dr. that this is what we should do, as we did not want Hayden to come back for yet another operation.

The operation was carried out as we had asked and compression was found in the palm of the hand. This time we had fantastic results and Hayden has not required any further operations for Carpal Tunnel.

Spinal, Neck Surgery

The next operation we had to prepare for was to stabilise the curvature of the spine between T11 – L1. This was to be a fairly major operation for someone who was only 9 years old and one none of us were looking forward to. In November 1991 Hayden and I traveled to Auckland where he was admitted to Middlemore Hospital and surgery was carried out. This operation was also believed to be a success and to this day he still has the rods in his back and the whole area has remained stable. Although he has had continued deterioration of L2.

By 1996 Hayden was starting to have quite a lot of neck pain which caused headaches and chronic tiredness. We did not know what was causing this problem so we headed to Christchurch for an MRI scan, which showed that the spinal cord between C1 – C7 was swollen and that there was no spinal fluid protecting the cord. It was thought that he had cord compression and that he should have a release.

Once again we sought the advice of experts from around the world. We were once again advised that an operation to release the cord and stabilise C7 was necessary, as Hayden would start to experience other problems caused by nerve damage.

August 1996 saw Hayden and I once again in hospital for a fairly major operation, and this time we had decided that this would be his last as he had, had so many operations in such a short time and he was becoming more at risk with anaethestics due to his neck problem and thickening of the airways.

The operation was carried out and a MRI repeat was carried out after the operation to check that all was well. The MRI showed that the spinal fluid had returned to the top of the cord and the swelling seemed to have been reduced.

Hayden came home and seemed to be progressing very well until about 15 weeks post op, when he started to experience problems with his balance. This became a very frightening situation for us, as we did not know why he was having to rely on holding onto anything he could just to stay up right.

We had two emergency trips to the Hospital only to be told they couldn’t help us because they did not understand the nature of the illness and that we would need to see our Pediatrician. Finally we got Hayden re-admitted to Hospital for extensive testing only to be told that MPS had infiltrated the Spinal Cord and he was experiencing cell death of the nervous system.

At this time the MRI was repeated to see what was happening to the cord. It was a shock to see that the cord was swollen again and the spinal fluid was no longer around the top of the cord. There was no reason why this should have happened, so Hayden was put on a course of steroids to help reduce the cord swelling. This course of treatment seemed to work quite well and Hayden was able to walk with a walking frame. He was sent home to see how things would go. The Steroids were stopped after two weeks and Hayden seemed to be making good progress, but two weeks after stopping treatment he began to fall again and was having problems with his bowel and bladder.

Treatment was recommenced and Hayden found his mobility again. This carried on for 1 year when it was decided that the drugs were doing more harm than good and treatment was stopped. By this time he was relying more and more on his wheelchair, so it seemed the right decision to make. We now know that MPS has infiltrated the spinal cord and is causing cell death of the nervous system. This is believed to be progressive although there is no time frame. Unfortunately for Hayden he was by now a paraplegic with ML3 and at very high risk for any surgery.

Sarah’s operations

Sarah has followed her brother with some surgeries, but has had to deal with more pain than Hayden has, due to him going into a wheelchair sooner than we expected. Having said that it has not stopped the destructive bone disease which is part of ML3.

Jan 1990 – She had her Adenoids removed and Grommets inserted

Dec 1990 and Mar 1993 – Carpel Tunnel surgery

1995 also saw Sarah back for further surgery and this time like her brother compression was also found in the palm of her hand. Sarah has had good recovery from this operation and we have seen a continual improvement in her nerve conduction studies. Like Hayden Sarah has not needed any further surgery for this problem.

Bone deterioration and chronic pain

This has been the one area that we had been unable to find a treatment for. Both Hayden and Sarah have had constant chronic pain for many years, and although many different kinds of drugs have been tried nothing has ever really worked.

With Hayden going into a wheelchair at age 15 we have probably preserved a good portion of his hip joints. Sarah was still walking at age 12 and was beginning to have huge changes in her hip joints and she was becoming very unsteady on her feet. While she has always had pain the level of pain by this age was increasing to a point where walking was very difficult. We found that once the children started puberty the bone destruction sped up.

In June 1998 Sarah started to experience major mobility problems and we began to think she was heading down the same path as her brother with spinal cord problems. Consequently towards the end of that same month she lost all mobility and was confined to a wheelchair.

In May 2000 Sarah was seen at Westmead Children’s Hospital in Sydney for a complete medical work up to try and find out why she had stopped walking. We didn’t know if it was due to spinal cord damage or bone disease.

What we did find out from all the tests was that Sarah had stopped walking due to gross destructive bone disease in her hips, pelvis and cervical spine. Her left hip is completely eroded away and is starting to fuse together. Her right hip is heading the same way. She was also in danger of having fractures. In her cervical spine between C4 and C5 her body has reabsorbed the disc, so what we were dealing with was severe Osteoporosis.

While in Sydney, it was discussed in great length on how we were going to treat this condition, and that maybe Hayden should also go through the same testing process in New Zealand, as it was now thought that if Sarah could have such huge bone destruction then so could Hayden.

It was agreed that due to the level and pain and bone disease in Sarah, we should commence on a trial basis a drug called Pamidronate. It was explained to us that this had never been tried in MPS children before so the outcome was completely unknown, but if it addressed the pain issue and did nothing else we felt we had nothing to lose and everything to gain

WHAT IS PAMIDRONATE

Pamidronate is a biphosphonate, a synthetic compound that binds to bone to prevent absorption of bone by osteoclasts. Osteoclasts are bone cells, which break down bone tissue. In normally functioning bones, these cells are followed by cells called Osteoblasts that lay down new tissue.

So in effect what was happening to Hayden and Sarah was that they were destroying more bone than they were making. Using Pamidronate reverses the process and allows them to make bone by preventing the Osteoclasts from destroying bone.

Pamidronate was commenced on 20th Aug 2000 at 30mg in 150ml IV fluid and infused over 4 hours. We have followed David Sillence’s protocol for Osteogenesis Imperfecta children, as a guideline for Hayden and Sarah

So what has Pamidronate done for Hayden and Sarah

We call this our wee Miracle:

2 weeks after the first infusion both young people were totally pain free

3 months after treatment Sarah got out of her wheelchair and walked with a walking frame.

4 months after treatment she was up on crutches

5 months after treatment all other drugs for pain relief were removed and they are now drug free.

6 months after treatment they are still pain free. The first bone biopsy was taken and we saw their first increase in bone density on Dexa scan.

7 months after treatment their blood levels had returned to within normal High range.

11 months after treatment Sarah was able to kneel down on the floor. She is also able to cross her legs while sitting

12 months after treatment Hayden has had a 25% bone growth on L2 and both young people are still pain free

Second bone biopsy taken, further increase in bone density seen on Dexa Scan.

When one sits and thinks about life before Pamidronate it was fairly stressful for everyone. We use to hate putting shoes and socks on Hayden as he always cried out in pain. Showering Sarah was terrible, as every movement would cause pain. We were unable to travel long distance so family holidays we not an option.

Now having completed 12 months of treatment the pain issues are no longer there and in fact Hayden and Sarah can do a lot more for themselves than they could in the past. We hear laughter instead of tears.

For our family the use of Pamidronate has been a real break through, we get pleasure out of hearing Hayden and Sarah really laugh. We did not really appreciate just how miserable they were due to constant chronic pain.

30th July 2002

Significant Break through in the Management of Secondary Metabolic Bone Disease in ML.

It is now 20 months since Hayden and Sarah started treatment with Pamidronate, and in that time we have completed a trial study and have presented the data at the Australian MPS conference in April 2002, and to the 7th International Symposium on MPS and Related Diseases, and 3rd Scientific Lysosomal Storage Disorders Congress in Paris June 2002.

You can see from the heading above we now have a name for bone disease in Mucolipidoses.

Both Hayden and Sarah have come a very long way since I began writing their story and now that the trial is about to be published I can now add the latest improvements which are described as outstanding results.

On 1st November 2001, Sarah stood up and walked for 6 steps unaided. We never thought we would see this happen again.

Since those first steps were taken she has regained her balance and can walk around the house without support.

Paul and I have really enjoyed seeing the improvements in both Hayden and Sarah, but the following change has been the one that has shocked us the most.

Two days after arriving home from the Australian Conference where I presented the first 18 months of treatment, Hayden stated that he could stand up. I must confess we looked at him and said that it was not possible as he is a paraplegic but he was very adamant that he could stand, so away off we went and got Sarah’s walking frame so that he could show us.

Much to our surprise he stood with the walking frame and then proceeded to take 4 steps.

I can’t describe the emotions that shot through Paul and I that day. I know I felt totally numb and it wasn’t until the next day that the excitement and hope kicked in. But in the back of my mind was the question how could this be happening paraplegics don’t walk let alone stand up. I now have to wonder just what else Pamidronate is doing in this disorder.

We have also noticed that Hayden has not had chest infections since commencing Pamidronate and his quality of life has improved dramatically.

The final piece of information that shows us that Pamidronate is slowing down Osteoclast activity are the bone biopsy results.

The first part of the results, show that both Hayden and Sarah’s Bone Density has returned to within Normal range.

The second part of the results show that while Pamidronate has brought the Trabacular and Endosteal surfaces (which are the soft spongy internal parts of the bone) back into Normal Bone Density Range, it has not stopped bone loss at the Periosteal surface or outer layer of bone. This is confirmed by the bone biopsy results.

So – with their being no change in this surface we now head towards a more aggressive approach to try and stop the resorption of the outer layer of bone. Pamidronate will be given at 120mg given every eight weeks in the hope that we can stop bone loss at the outer layer of bone.

These last 20 months of treatment have seen some incredible changes in Hayden and Sarah, but the most outstanding changes of all has been to see them both up and walking again, and having them totally pain free.

Hayden and Sarah’s journey with Pamidronate has become a major medical break through in the Management of bone disease in ML and one that has given them both quality of life.

I would like to use our story to call all ML families who read this to contact me. Prof. David Sillence from Australia, is putting together an International Trial using Pamidronate to build up an International protocol in the treatment of Metabolic bone disease in ML. If you would like to know more or to be involved we would very much like to hear from you.

Update on Hayden and Sarah’s Journey with Mucolipidosis type III – March 2011

The Noble family moved to Tauranga in 2003 to be closer to their families. Jenny continues the children’s journey with this very rare and life threatening disease

Pamidronate:

Hayden and Sarah remained on Pamidronate for 7 years and in this time we played with the dose levels and how often the drug was given. We had mixed results from these trials.

As I outlined in the story above we were going to move them onto a more aggressive level of treatment and give it to them less often in the hope that we could shut down the osteoclasts even more than we had managed with a low dose.

We proceeded to do this in 2002 gradually building the dose level up to 120mg given every 8 weeks and for a little while this level of treatment seemed to be working which was wonderful as it meant we didn’t have to go to the hospital every month.

However after about 5 infusions at 120mg we started to see Sarah slipping back to not sleeping, feeling tired all the time, not eating and generally feeling terrible. Hayden was a little more difficult to judge what was happening with him but he did complain of increased pain.

So after much deliberation and discussions with the treating Drs we decided to revert back to 30mg monthly for Hayden and 60mg for Sarah monthly, and again getting back to this regime we saw fast improvements in both young people.

After my presentation in Paris to the International Lysosomal meeting in 2002 we received many e-mails from ML families who had heard about what we were trying to do to combat pain. In the space of 12 months we saw well over 60 patients worldwide using Pamidronate. It was wonderful to hear of the improvements in all these children as well.

After seven years of treatment we needed to start thinking about where to from here. We always knew that they could not stay on Pamidronate forever and we were facing two options move onto a new age bisphosphonate, or start an oral therapy. Fortunately we didn’t need to make that decision right away as Hayden was starting to exhibit spinal complications again and both young people needed to have some dental work done.

2005 Hayden and Sarah had well and truly moved into Adults services by this time, and we began to see many cracks in health services when it came to the care of patients with complex health conditions and I guess this begins a part of our Journey that we wish had never happened and wished that we had received action sooner rather than later.

The situation got so bad with the hospital denying us appropriate access to services we had to ask LDNZ to step in and help us out. It often becomes difficult to do your own advocacy and it sometimes requires someone from the outside to step in and help. We are very grateful to John Forman – (chairperson for LDNZ) who became our advocate and helped us through the difficult issues of appropriate access to services at the Hospital but also for specialist services across District Health board boundaries.

Cervical spine Issues Hayden and Sarah: For as long as we can remember we have been told to carefully manage the spines in our young people and although we had been doing so while they were in paediatric services we were struggling to get all the follow up tests done that we knew needed to be done in Adult services.

By the time we realised that they had spinal issues going on both Hayden and Sarah were getting in to serious situations. Both young people were experiencing headaches, back pain, pins and needles in arms and legs and chronic tiredness. These symptoms can often mean other things as well, so by the time we reacted to the symptoms we were seeing a decline in quality of life in both Hayden and Sarah

What I have learnt through this process is that our two special young people became very good at hiding what was going on, they didn’t want to worry mum and dad as they saw the struggles we were having trying to get the right care for them in Adult services.

This particular part of our journey with ML was extremely distressing trying to get tests done and get results in, and trying to find someone who would take what was happening to Hayden and Sarah seriously.

You can see from the dates that it took us almost 2 years to find the right person to take on these very complex operations. We were pushed from one Dr to another; some said a Paediatric team needed to be involved. Paediatric teams said it was Adult services responsibility to care for Hayden and Sarah. One team of Adult Drs said the case was too complex and had too high a risk go back to Paediatrics. This is one of the complex issues we face in New Zealand getting co-ordinated care for patients with complex conditions. We eventually found and saw Dr John Fergusson privately who agreed that Hayden had a very serious case of instability and cord compression. The problem he had was getting Hayden back into the Public health system so he could have his operation.

Finally having someone who could see the subtle changes in Hayden gave us the confidence to ask John Fergusson to look at Sarah’s MRI which she had done in 2005. We were told back then that there was nothing wrong with Sarah’s neck, but I think experience told us the Dr was wrong, and sure enough he was wrong. John identified instability in her neck but thankfully we had time on our side to deal with Hayden first.

7th September 2007 Hayden was finally admitted to Auckland hospital for fusion and decompression of his cervical spine. However this came with its own set of problems. There were real issues getting operating time because Hayden had seen the Dr privately, and so getting back into the Public health system was a nightmare. The more time we spent waiting for a date the more urgent the case became. Hayden was having balance issues, he was losing the use of his arms and spending more time in bed as life was getting too difficult for him. Finally we rang the Dr and said we can’t wait anymore this is really urgent. We ended up having just 24 hours notice to get to Auckland and present at the Emergency department where there was an orthopaedic team waiting for us so that Hayden could be admitted to hospital to have an operation the next day. Talk about going in through the back door to get life saving surgery!!!

He was fused from C4-T1 at the front of his neck and C3-T3 at the back. He wore a neck and upper body brace for 6 months to give him added stability and allow for the healing process to take place. I think also for Hayden he was really anxious about the instability he had been experiencing all these years and was not confident to move and sit up by himself.

This operation took quite a lot out of Hayden which meant it took longer for him to recover, however recover he did and for a little while he had really good health.

11th April 2008 By the time we got to this date Sarah was having some real problems with severe headaches that would not respond to medication. So on 11th April she was rushed to Auckland hospital for Cervical Fusion.

She is fused from her skull to T3 at the back and C4 – T1 at the front. What we didn’t know was that her skull had slipped down the odontoid peg which meant the peg was hitting the brain stem every time she moved her head. This explained why she was having such severe headaches.

Sarah was a real trooper she was so determined to get up and get moving and put everyone to shame in the high dependency ward. She did such an amazing job through her recovery process. She also has not looked back headaches are a thing of the past.

What bought a smile to our faces was that John had asked the original Dr who had read Sarah’s MRI and had told us there was nothing wrong to assist with the operation. For the second time in our journey with Mucolipidosis we got an apology. This Dr was totally shocked at what he saw during the operation. He said he totally underestimated what damage ML could do, he thanked us for the experience of being able to help operate on such a complex condition. YAH we were able to teach someone about Lysosomal Diseases.

After these two operations and many visits to clinics in Auckland, Paul and I felt like we were living at the hospital. We know the road from Tauranga to Auckland like the back of our hands. Our journey continues with Hayden’s next operation.

11th May 2009 Hayden was again being rushed into hospital for full spinal fusion by the time we found a date that suited everyone Hayden was beginning to lose control of his bowel and bladder and again there were balance issues. By the time we came to getting this operation sorted the Dr was a pro at getting operating time from is colleagues.

Hayden had full spinal fusion both front and back from T4 to Sacrum. This surgery has given Hayden back his quality of life. His headaches are now a thing of the past and he has learnt how to move and manage having a stiff spine, and this time we saw utter determination from Hayden that he was going to fight through the recovery period and do what his sister did – get home and get back to normal quickly.

It was pretty amazing seeing him back in his chair. He looked as though he had grown in height overnight and of course he had with his spine being straightened and now in a normal position, he was no longer hunched over, and talk about eat – he has a really good appetite and can eat a reasonable meal, where as prior to surgery eating was difficult with all his organs being pushed up under his ribcage.

Through this part of our journey with ML and the serious spinal issues our two have faced, we want to take a moment to acknowledge the work of Mr John Fergusson Auckland spine clinic, who listened to us looked at the scans and saw all the subtle changes that had taken place in the spines of Hayden and Sarah. Our family will forever be grateful for his care, dedication and compassion.

And so with the Noble children getting through 3 major surgeries in 3 years the family begin to face the next serious health issues. Jenny outlines the struggles Sarah faced with cardiac complications.

Back in 1990 when we met Dr Jules Leroy who discovered ML II in 1964 he told us that if we did nothing else for this disease we must manage their cardiac issues. These words have stayed with us all these years and while in Paediatrics they agreed with the World’s leading expert and carried out annual testing. It was during one of these annual tests that the hole was found in Sarah’s heart.

After spending 6 years from about 2003 advocating with Adult services at Tauranga hospital, getting the scans done but still not meeting with a cardiologist, Sarah eventually started showing issues relating to the hole in her heart that had been diagnosed when she was just 12 years old.

By 2009 she was having shortness of breath, chest pains and chronic tiredness and because we had never seen anyone in the cardiac department we had no one to talk to about her symptoms. Her Echo tests were never explained to us and the report would – say no change from her last scan – What did that mean?

Sarah was starting to get very concerned about the chest pains as they were becoming more regular, so I decided that it was time to act and insist that we get to see a cardiologist. I made an appointment for her to see our GP and outlined all the issues of access to the cardiac team, the lack of real results from her Echos and the current issues Sarah was experiencing. The GP said that her treatment by the hospital was not acceptable and made an urgent request to have Sarah seen by a cardiologist.

Within two weeks of the referral being made we were sitting in front of a cardiologist at Tauranga hospital. This was an extremely difficult consultation. The Dr refused to talk to me about ML. He turned his back on me and spoke only to Sarah. As he was writing notes I whispered to Sarah that she had forgotten to tell him about chest pains. He quickly turned to me and said he would not be discussing this with me I was not the patient.

Sarah and I were pretty shocked but she was wonderful, when he was examining her he asked her a question about ML which she couldn’t answer so she told him he needs to speak to mum. He refused to do that and told me he would only be guided by medial papers and could I supply them.

It was also very clear at the time that he was not convinced that there was anything major going on with Sarah, so we asked him to tell us what the real results were from her previous Echo tests.

We received another shock when he said the right side of her heart was enlarged but was not too bad. I asked how long it had been in this state and was told 5 years and that they were monitoring it. Needless to say I was really angry about that and told him he had no right to keep this information from us. He said they didn’t call her in as they didn’t think it would be affecting her due to her age.

Again I bought up the possibility that the hole in her heart was still there. He told us there was nothing in her notes about that and they had never found it on scans. I told him if he looked at the scans from Nelson he would see it. He was not convinced as they couldn’t see it on their scans. It was a very disturbing appointment with the cardiac team, their total lack of attention to the details of a rare disease was unacceptable.

During the appointment he did decide that Sarah should wear a cardiac monitor for two weeks which was organised quite quickly and then we received an appointment for a Cardiac MRI to be done in Auckland. Did he finally listen to what I was telling him? We will never know.

However on 19th November 2009 Sarah had the MRI. I was sitting in the waiting room and could hear the Dr talking to Tauranga. He stated that he had found a hole in her heart, right at the top and that the vein from her lungs was pumping into both right and left sides of her heart hence the enlarged right side of her heart.

What we did know was that the hole in her heart was there from birth and these holes often don’t affect people until they are much older, but we knew that ML is unpredictable, the hole ended up affecting Sarah sooner that it would have in normal people

Anyway after all the dramas of getting Sarah seen she finally had open heart surgery on 2nd August 2010 at Auckland Hospital. The team involved in her care were wonderful. They made sure that Paul and I were involved every part of the way. (It was a Paediatric team – what a pleasure it was to be back under the care of this department)

Sarah ended up in Paediatric ICU as she has a congenital heart defect, and going forward should she have any other problems with her heart such as the valves getting more damaged and needing repair or replacement she will have it done through Paediatric services. She was even given a card with all the contact details on that she must carry with her at all times. She thought this was quite exciting and I think she is somewhat relieved that the Paediatric team will deal with any cardiac issues that happen in the future.

This is a major break through for us in knowing that she will get the right care now as far as her heart is concerned.

6 week post operation appointment

Wednesday 15th September 2010: We feel that we need to add this to our journey with ML. Sarah had her 6 week post operation check up at Tauranga Hospital. We saw the same person who gave us all the grief in the beginning. What a complete change of attitude. He not only spoke with Sarah but included me in all the conversations. I know we will never get an apology but I think there is now respect and understanding of the knowledge we as a family have with ML.

He even talked about management of her heart going forward, I was able to say we need to add Hayden into the mix as well – and wait for it – he agreed and will work out a long term care plan. Finally we have a break through in how the cardiac department interact with us.

Anyway we can report that Sarah’s operation has been successful. Her chronic tiredness has disappeared and so has the shortness of breath and palpitations. She has quality of life again. The Dr was very pleased and surprised that results are being seen so quickly, but I think we always knew this would be the case as we had taken the opportunity to speak with some of our International experts who all said once the hole is closed Sarah should notice the changes quite quickly.

Living with a rare disease is probably one of life’s hardest journeys for parents who have affected children. There needs to be more respect of this knowledge by the professionals caring for our children as the parents are almost always the expert.

March 2011 Hayden and Sarah follow their dreams

Hayden has been a member of the Tauranga Indoor Bowls Special Olympics team for 5 years and has his heart set on qualifying for next years games.

He is very proud of his gold and silver medals. He is an avid sports follower with his heart given to the NZ Warriors league team. At the age of 18 Hayden was made an honorary Vodafone Warrior an honour not given to any other New Zealander.

Sarah has been able to follow her dreams of painting and just recently joined Hayden in the special Olympic indoor bowls team. During 2010 she entered the Genzyme Expression of Hope stage II contest and won the featured art award.

She was so very proud and has gone one and sold several paintings. It is wonderful to have some of her paintings hanging in our home.

Upcoming surgeries:

Unfortunately for Sarah though her operations are not over. We are currently investigating the possibility of having shoulder replacements done to alleviate chronic pain in these joints. So I guess we need to watch this space for the next update.

Performance report to June 2018

Rare Disease Epidemiology – 2nd Edition

In mid-2017, John was invited to write a preface for a book called Rare Diseases Epidemiology, which concentrates on the work done for LDNZ and ISMRD and talks about what patient advocates can achieve.

Here’s the link to the PDF or you can pay for and download the book here.